Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Conditional Density Estimation by Penalized Likelihood Model Selection and Applications [PDF]
In this technical report, we consider conditional density estimation with a maximum likelihood approach. Under weak assumptions, we obtain a theoretical bound for a Kullback-Leibler type loss for a single model maximum likelihood estimate.
Cohen, Serge, Pennec, Erwan Le
core +3 more sources
A Systematic Literature Review: Choice Bracketing in Decision making
Abstract Objectives In this research, the author revised the most controversial cited articles, which have 100 citations and above, between 1994 and 2022 to investigate the main reasons behind narrow bracketing, and understand if it is rational psychological behavior or biased.
openaire +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Discourse Within the Interactional Space of Literacy Coaching
Reviews of literacy coaching show positive outcomes for teaching and learning, yet also that coaching’s impact varies widely, especially at increased scale.
Valerie Dunham, Dana A. Robertson
doaj +1 more source
Accurate age determinations of several nearby open clusters containing magnetic Ap stars
Aims: Our aim is to obtain ages that are as accurate as possible for the seven nearby open clusters alpha Per, Coma Ber, IC 2602, NGC 2232, NGC 2451A, NGC 2516, and NGC 6475, each of which contains at least one magnetic Ap or Bp star.
Landstreet, J. D., Silaj, J.
core +1 more source
Maximum Score Estimation of Preference Parameters for a Binary Choice Model under Uncertainty [PDF]
This paper develops maximum score estimation of preference parameters in the binary choice model under uncertainty in which the decision rule is affected by conditional expectations.
Chen, Le-Yu +2 more
core +3 more sources
Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani +10 more
wiley +1 more source
Bracketing effects in categorized survey questions and the measurement of economic quantities [PDF]
In households surveys, quantities of interest are frequently elicited using categorized (range-card) formats rather than open-ended questions. One advantage of this format is that is typically reduces item non-response.
Winter, Joachim
core +1 more source
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian +4 more
wiley +1 more source

